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ACTN3 Polymorphism: Comparison Between Elite Swimmers and Runners.

Sigal Ben-Zaken1, Alon Eliakim2, Dan Nemet2

  • 1Genetics and Molecular Biology Laboratory, The Zinman College of Physical Education and Sports Sciences at the Wingate Institute, Netanya, 42902 Israel.

Sports Medicine - Open
|August 19, 2015
PubMed
Summary

The ACTN3 R577X gene polymorphism is linked to athletic specialization in runners, with distinct genotype frequencies between short-distance and long-distance runners. This genetic marker does not significantly differentiate between swimmers specializing in different distances.

Keywords:
ACTN3Genetic polymorphismRunnersSwimmers

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Area of Science:

  • Genetics
  • Sports Science
  • Human Physiology

Background:

  • The ACTN3 gene provides instructions for making alpha-actinin-3, a protein crucial for muscle function.
  • A common polymorphism, ACTN3 R577X, affects the production of functional alpha-actinin-3.
  • The R allele codes for functional protein, while the X allele results in a non-functional variant.

Purpose of the Study:

  • To investigate the association of the ACTN3 R577X polymorphism with athletic performance in runners and swimmers.
  • To compare allele and genotype frequencies across different athletic specializations (long-distance vs. short-distance) and non-athletic controls.

Main Methods:

  • Study included 137 runners, 91 swimmers, and 217 controls.
  • Runners and swimmers were categorized into long-distance (LDR, LDS) and short-distance (SDR, SDS) subgroups.
  • Genotyping was performed using the Taqman allelic discrimination assay on extracted genomic DNA.

Main Results:

  • Significant differences in ACTN3 R577X genotype and allele frequencies were observed among runners (LDR, SDR) and controls.
  • Long-distance runners (LDR) showed the lowest prevalence of the RR genotype and R allele, and the highest prevalence of the XX genotype and X allele.
  • No significant differences in genotype or allele frequencies were found among swimming subgroups (LDS, SDS).

Conclusions:

  • The ACTN3 R577X polymorphism can distinguish between short-distance and long-distance runners.
  • This genetic polymorphism is not a significant differentiator for swimming specialization.
  • Other factors beyond ACTN3 genotype likely influence performance distinctions in swimming.